PGAP3 c.422C>T ;(p.A141V)

Variant ID: 17-37840860-G-A

NM_033419.3(PGAP3):c.422C>T;(p.A141V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Whole exome re-sequencing implicates CCDC38 and cilia structure and function in resistance to smoking related airflow obstruction.

Plos Genetics
Wain, Louise V LV; Sayers, Ian I; Soler Artigas, María M; Portelli, Michael A MA; Zeggini, Eleftheria E; Obeidat, Ma'en M; Sin, Don D DD; Bossé, Yohan Y; Nickle, David D; Brandsma, Corry-Anke CA; Malarstig, Anders A; Vangjeli, Ciara C; Jelinsky, Scott A SA; John, Sally S; Kilty, Iain I; McKeever, Tricia T; Shrine, Nick R G NR; Cook, James P JP; Patel, Shrina S; Spector, Tim D TD; Hollox, Edward J EJ; Hall, Ian P IP; Tobin, Martin D MD
Publication Date: 2014-05

Variant appearance in text: rs35464006
PubMed Link: 24786987
Variant Present in the following documents:
  • Main text
  • pgen.1004314.pdf
View BVdb publication page